PMID- 1635160 OWN - NLM STAT- MEDLINE DCOM- 19920825 LR - 20061115 IS - 0485-1439 (Print) IS - 0485-1439 (Linking) VI - 33 IP - 2 DP - 1992 Feb TI - [Analysis of the GPIIb and GPIIIa genes in patients with Glanzmann's thrombasthenia]. PG - 133-8 AB - Glanzmann's thrombasthenia (GT) is an autosomal recessive bleeding disorder due to a deficiency or abnormality of glycoproteins (GPs) IIb and IIIa, but its genetic basis remains to be determined. We analyzed the genes for GPIIb and 3'GPIIIa in 3 patients with GT and in 7 control subjects by Southern blot. No large deletions or insertions were detected in these genes in any patient with GT. Furthermore, the GPIIb and GPIIIa mRNAs derived from the platelets of patients with GT could be amplified using the reverse transcriptase-polymerase chain reaction (RT-PCR). This finding indicates that the mRNAs of the patients with GT are considered to be normally transcribed. The molecular defects of the GPIIb. FAU - Yasunaga, M AU - Yasunaga M AD - Department of Clinical Laboratory Medicine, Kobe University School of Medicine. FAU - Ryo, R AU - Ryo R FAU - Adachi, M AU - Adachi M FAU - Sugano, W AU - Sugano W FAU - Yoshida, A AU - Yoshida A FAU - Nakayama, K AU - Nakayama K FAU - Saigo, K AU - Saigo K FAU - Yasunaga, K AU - Yasunaga K FAU - Yamaguchi, N AU - Yamaguchi N LA - jpn PT - English Abstract PT - Journal Article PL - Japan TA - Rinsho Ketsueki JT - [Rinsho ketsueki] The Japanese journal of clinical hematology JID - 2984782R RN - 0 (Platelet Membrane Glycoproteins) SB - IM MH - Blotting, Southern MH - Female MH - Gene Amplification MH - *Genes MH - Humans MH - Male MH - Platelet Membrane Glycoproteins/*genetics MH - Polymerase Chain Reaction MH - Thrombasthenia/*genetics EDAT- 1992/02/01 00:00 MHDA- 1992/02/01 00:01 CRDT- 1992/02/01 00:00 PHST- 1992/02/01 00:00 [pubmed] PHST- 1992/02/01 00:01 [medline] PHST- 1992/02/01 00:00 [entrez] PST - ppublish SO - Rinsho Ketsueki. 1992 Feb;33(2):133-8.